GMNN

Chr 6p22.3

geminin DNA replication inhibitor

Aliases:: Gem
MANE:: ENST00000230056.8

OMIM: 602842 ↗NCBI: 51053 ↗Ensembl ↗

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Predicted protein structure

AlphaFold predicted structure

GMNN · O75496

v62025-08-01

Predicted Aligned Error matrix for GMNN — diagonal shows residue index, colour shows pairwise prediction confidence (lower is better) — Predicted Aligned Error

Mean pLDDT

69.5/ 100

Low

209 residues

Confidence breakdown

Very high(≥ 90)28%
Confident(70–90)14%
Low(50–70)40%
Very low(< 50)18%

Open interactive 3D viewer

AlphaFold (Jumper et al., 2021) · CC BY 4.0

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

DDG2P
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Fetal anomalies
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Severe microcephaly
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Intellectual disability
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Clefting
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Disease associations (Open Targets)

Ear-patella-short stature syndrome
0.68
Meier-Gorlin syndrome
0.46
neurodegenerative disease
0.37
microcephalic primordial dwarfism
0.37
lysosomal storage disease
0.29
alcohol drinking
0.24
hereditary disease
0.19
early-onset non-syndromic cataract
0.11
Total congenital cataract
0.11
Posterior polar cataract
0.11

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)

Geminin

Inhibits DNA replication by preventing the incorporation of MCM complex into pre-replication complex (pre-RC) (PubMed:14993212, PubMed:20129055, PubMed:24064211, PubMed:9635433). It is degraded during the mitotic phase of the cell cycle (PubMed:14993212, PubMed:24064211, PubMed:9635433). Its destruction at the metaphase-anaphase transition permits replication in the succeeding cell cycle (PubMed:14993212, PubMed:24064211, PubMed:9635433). Inhibits histone acetyltransferase activity of KAT7/HBO1 in a CDT1-dependent manner, inhibiting histone H4 acetylation and DNA replication licensing (PubMed:20129055). Inhibits the transcriptional activity of a subset of Hox proteins, enrolling them in cell proliferative control (PubMed:22615398)